Electrical status epilepticus during slow-wave sleep (ESES) is an epilepsy syndrome with sleep-induced epileptic discharges and acquired impairment of cognition or behavior. Since the disease’s original description in 1971, no clear consensus has emerged on diagnostic criteria or optimal treatment. The treatment of ESES can be challenging, often including numerous antiepileptic drugs, immunomodulatory agents, and even surgical interventions. There is little evidence to guide treatment because only retrospective studies and case reports on the efficacy of treatment of ESES are present in literature. In this paper, we aim to analyze the etiopathogenesis of ESES in the new genetic era and to evaluate the treatment modalities in accordance with the genetic data and electroclinic spectrum of ESES.

The CDKL5 disorder is characterized by early onset epilepsy, stereotypical hand movement, absent speech and severe hypotonia. Herein, we report epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) in apatient with CDKL5 disorder. She admitted with complaints of frequently recurring generalized tonic and myoclonic seizures. The diagnoses were confirmed by de novo CDKL5 mutation, c.197_198delCT (p.L67QfsX23). Interictal EEG revealed generalized spike and slow-wave activity, occurring intermittently in wakefulness but present for at least 85% of non-REM sleep, consistent with the diagnosis of CSWS. To our knowledge, this is the first report of CSWS associated with CDKL5 disorder.

Hereditary spastic paraplegia (HSP) is a group of rare neurodegenerative disorder with genetic and clinical heterogeneity. It has autosomal dominant (AD), autosomal recessive (AR) and X-linked forms. HSPs are clinically classified into 'pure' and 'complicated' (complex) forms. SPG11 (KIAA1840) and SPG15 (ZFYVE26) are the most common ARHSPs with thin corpus callosum (TCC). They typically present with early cognitive impairment in childhood followed by gait impairment and spasticity in the second and third decades of life. Here, we present a patient girl, born to a couple who were first cousins, was admitted to the pediatric neurology outpatient clinic at 14 years of age because of walking with help, dysarthria and forgetfulness. Her examination revealed a motor mental retardation, bilateral leg spasticity, increased deep tendon reflexes in lower limbs, bilateral pigmentary retinopathy; TCC and white matter hyperintensities on brain MRI, sensorimotor axonal polyneuropathy findings in lower limbs on electromyography. Based on the clinical features and the imaging studies, the diagnosis of HSP was suspected. Targeted next generation sequencing (NGS) was performed using Inherited NGS Panel that consists of 579 gene associated with Mendelian disorders. Analysis of the patient revealed a c.6398_6401delGGGA(p.Arg2133Asnfs*15)(Exon35) homozygous novel change in ZFYVE26 gene. Genotype-phenotype correlation of HSP is complicated due to heterogeneity. The clinical similarity of HSP types increases the importance of genetic diagnosis. There are few reports about pathogenic variants in ZFYVE26 gene in the literature. This case report is one of the few studies that revealed a novel pathogenic variant in ZFYVE26 gene using NGS.

The purpose of this study was to enhance understanding of CACNA1A gene variants by elucidating the clinical profiles of patients with different variants. The overlapping features and varying phenotypic characteristics of these neurological disorders pose challenges for clinicians. A data collection form was utilized to gather clinical features, examination details, and treatment information associated with CACNA1A variants. Thirty-one patients were included in the study from 11 different clinics in Turkey. Cases were assessed by comparing their information with existing literature. The study initially included 32 patients from 29 families, with 31 patients meeting the inclusion criteria. Clinical manifestations ranged from congenital onset hypotonia to motor seizures. Within the group of patients, 87% were diagnosed with epilepsy, 61% had neurodevelopmental defects, 32% experienced ataxia, 22% had eye movement problems, 16% suffered from migraines, and 13% had recurrent encephalopathy. Thirty percent of individuals exhibited cerebellar atrophy. A subset of individuals exhibited various forms of cognitive impairment and different kinds of ataxia. Conclusion: CACNA1A variants can lead to structural and functional abnormalities in the Cav2.1 channels, resulting in paroxysmal and/or chronic clinical presentations. The overlapping phenotypes and variable features among family members suggest the influence of environmental factors and modifier genes. A thorough understanding of the range of phenotypic variants and the difficulties encountered by medical professionals is essential for precise diagnosis and efficient treatment approaches in various neurological conditions. Additional research is necessary to clarify the underlying mechanisms that contribute to the various presentations of these variants. What is known: • Variants in the CACNA1A gene disrupt calcium signaling, thereby impacting fundamental developmental processes such as neuronal differentiation, migration, and synapse formation. • Variants in the CACNA1A can lead to neurodevelopmental disorders characterized by intellectual disability, learning difficulties, memory challenges, and problems in social interaction. What is new: • Instances of intrafamilial variability in CACNA1A variants have been identified, with differing clinical manifestations exhibited by affected family members. • Incomplete penetrance is a phenomenon that may occur, as neurodevelopmental or neuropsychiatric findings are not exhibited by some patients with CACNA1A variants.